Feelings about diagnosis – Jewish health

Cancer

Several women who were diagnosed with breast cancer or ovarian cancer talked about feeling numb, shocked and a few felt angry and asked ‘why me?” Karen said “you never in a million years think it’s going to be you.” Sheila’s mother had survived breast cancer which gave her confidence that she too would survive it but she still felt very worried. David felt “diabolical,” when he was diagnosed with multiple myeloma.

Karen was unaware that Ovarian cancer was prevalent in Ashkenazi Jewish women and was shocked…

Age at interview 48

Gender Female

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So, you know, it’s a shock. You never ever in a million years think it’s going to be you. And I didn’t know until I got it and started hearing that this one’s got it, and that one’s got it. People that my friends know, you know, I wasn’t aware that it was actually quite prolific in Ashkenazi Jewish people. I just, I just you wouldn’t know. No ideas. Never had been sent anything about it orI wasn’t even aware of the symptoms. You know, had I been aware of the symptoms and I might have been a bit more pushy at my original doctors, but I certainly would have been a bit more concerned at my new doctors, but because I wasn’t aware it was masked by the fact that I had this prolapse, you know, which could have caused the problem. So it wasI really think doctors need to do the blood test first and foremost to rule it out instantly.

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Sheila never thought that she would die when she was diagnosed with breast cancer but she was…

Age at interview 59

Gender Female

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But I think that actually in the back of my mind though, I wasn’t that sure if I was going to be alright, but I did at that stage, I mean I was studying part time, I was only working part time, I had to be terribly careful about money, and I bought a present for a little girl, here who had hurt her finger, I mean, I seemed to spend quite a lot of money, and I think I must have thought, well you know, if I’m not going to be around what difference does it make sort of thing. You know what I mean. So on one level I was absolutely positive, but on another level I actually probably was, was, was quite, quite worried. But I never thought that, I don’t think I ever thought that, you know, I, I might not be here in six months or a year’s time.

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Being diagnosed with BRCA susceptibility genes

Ashkenazi Jewish women have a higher prevalence of carrying a mutation on the BRCA1 or BRCA2 gene, which means a higher risk of developing breast or ovarian cancer. Caroline initially wasn’t too bothered when she discovered she had the mutation because it was “just some numbers and letters” but later felt scared once she read more about it. Hayley said, “They give the statistics and that’s what really rocked me” when she found out that she had an increased risk of developing breast cancer and ovarian cancer. Michelle described how “horrendous” it was to find out that she was a carrier of the BRCA2 mutation when she had breast cancer because she was unaware of any family history of cancer.

After the initial shock, most women were grateful that they were now aware of the greater risk to themselves and to their children and that they had the opportunity to do something preventative.

Finding out she carried the BRCA gene enabled Karin to be proactive and she had a double…

Age at interview 39

Gender Female

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It was a bit of a limbo because you try and convince yourself you haven’t got the gene, but then equally you need to start preparing yourself if you have. So it’s, it’s very difficult to deal with trying to be positive and say no, no, no, you don’t have it. But actually being realistic and how you’re going to deal with it if you do which is why, when it came to making my decision to have a double mastectomy, I’d spent a long time, and we’d spent a long time talking about it, and what we would do, and how we would handle it.

I mean for me it has been an incredibly positive experience. To be given an opportunity to be proactive, because it eliminates, I don’t know, eighty, more than eighty five per cent of my risk factor, which is huge, when you have a ninety something per cent risk.

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Several women were concerned about whether the gene had been passed to their children and when to talk to them about being screened (see Genetics and Inheritance 2: BRCA mutations and BRCA mutations and preventive surgery). 

Crohn’s disease

Sylvia, who was diagnosed with Crohn’s disease over 30 years ago was given little information at the time so she said “she just got on with it” and treated it with a low fibre diet. Sometimes it can take a while for Crohn’s disease to be diagnosed and when this was the case, people felt relief to finally know what was causing their symptoms.

Hinda was relieved to finally find out that the stomach pains she had experienced for two years…

Age at interview 54

Gender Female

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Can you remember how you felt? You said that you felt relieved when you got the diagnosis.

Well at least, I knew, well at least then there was something, I knew there was something wrong; that I wasn’t going mad. I mean I actually thought when the doctor said to me to see a psychiatrist, I thought, I knew I wasn’t mad, but I mean, I thought maybe, I knew there was something wrong. Yes, I was delighted, not delighted, but I mean I was happy that I knew there was something. That I wasn’t just imagining things because you do, I mean after two, over two years, of saying you’d got pains in your stomach and cramps in your stomach, and nobody believes you. I mean, my son at the time was only what 15? 14? 15, and he had just had his bar mitzvah and I thought, oh that’s what brought it on; the stress of that. Because I’m in the catering business I did the whole weekend. I mean I had hundreds of people for dinners and God knows what, a whole family thing, Friday night, Saturday night, Sunday night, Monday night. The whole weekend. I got this about a year, year and a half later, and I thought it was just the stress of all that. But I don’t know. Maybe it wasn’t, maybe it wasn’t. Who knows? I don’t know.

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Some people were diagnosed with Crohn’s disease when they were teenagers or young adults. Riva felt that getting Crohn’s as a teenager affected her education and her future plans. Marcel had found it helpful at the time to speak to the psychiatrist attached to the hospital. Linda said she hadn’t really understood the implications of Crohn’s disease and that her parents were more traumatised than she was about her diagnosis. Sara was devastated when her twelve year old son was diagnosed and she found it difficult to cope.

Riva asked why me? when she was diagnosed with Crohn’s disease as a teenager and said it…

Age at interview 34

Gender Female

Age at diagnosis 16

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And can you remember what you felt when you were told it was Crohn’s?

Well I was a pretty self centred teenager and I was thinking like why me?’ and why now?’ What did I do to deserve this?’ It was very lousy having to go through that. I missed almost two years of school, barely scraped my matriculation exams. It changed my life, completely. It… I don’t know how to say it, it just turned it completely upside, everything, you know, all my dreams and things that I wanted to do. Just so many things had to be put on hold or completely cancelled.

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Sara was devastated when her son was diagnosed with Crohn’s disease when he was 12 years old.

Age at interview 48

Gender Female

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I think, trying to go back into all those feelings, because it was a very traumatic time, but I think when you have a chronically sick child, you’ve got to focus on the child. And you can’t, as a pharmacist you would have thought that I would go into it all and investigate, but I found that I just couldn’t.

Even once it was diagnosed, I thought right I really do have to look into this. That’s the way I would work normally. The information on the internet was so depressing. That wasn’t the way the doctors talked to me and I don’t think they were just trying to make me feel comfortable. They seemed very upbeat, there was lots of research going on, and we can deal with this, we can manage it. But on the internet the information is very depressing and I just cried. I couldn’t take it. I couldn’t handle the stress of dealing with my child who was suffering so much, and on this regime, where you really had to support him. It was a nightmare time. So I just stopped the research. I couldn’t take it, and it is really only the last few months that I look into the subject. I’ve found that you just can’t cope with it; well I couldn’t cope with it.

Can you remember how you felt when you found out it was Crohn’s?

Shock. But I didn’t know much more than that. It had been such a traumatic few weeks. At least we had a diagnosis and there was a treatment and at the time, the doctor was very confident that you do the treatment, then he’d be fine. Now it does work sometimes like that, but it didn’t for him. So I have to say that, at that time, that timing when he was diagnosed, there was so many things happening here at home as well, we just, I don’t know how I survived it to be honest.

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Gaucher disease, Torsion dystonia and Factor X1 deficiency

Type 1 Gaucher disease is the most common genetic disease amongst Jewish people (see Jewish Genetic Disorders UK). The symptoms of the disease are very variable. Gary was diagnosed with Gaucher disease 18 years ago when little was known about it. He was shocked when he was told he only had between five and seven years to live.
Torsion dystonia is a movement disorder involving uncontrollable and sustained muscle contractions resulting in repetitive movements and distortions of the body. Now aged 39, M was diagnosed with Torsion dystonia when he was sixteen years old. He was told it would get progressively worse and there was no cure. Since then he has had deep brain stimulation which has helped his symptoms enormously (see Treatment).
Factor X1 is produced by the liver and is part of a chain of clotting factor responsible for stopping bleeding by forming a clot after an injury or surgery. Although he had always bled and bruised easily from an early age it was only when Helen’s husband, Ivor, had a hernia operation at the age of 70, that he discovered he had Factor X1 deficiency.

Helen’s husband, Ivor, was relieved to find out that the problems with his blood that he had had…

Age at interview 77

Gender Female

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So can you remember, what did he think when he was told, after all these years of having this blood that didn’t clot that there was a particular?

Helen’ I think he was happy that there was actually a name for it. I mean he knew, you know, he had a bleeding problem.

Colin’ Yes.

Helen’ But at least we knew what it was.

Colin’ Yes, I think it was largely a case of, you know, I told you so. We knew there was something wrong.

Helen’ Well

Colin’ And it was a case of identifying it, possibly coming up with, you know, a cause and I think to be fair, knowing Dad he quite enjoyed the celebrity for a little as well.

Ruth’ Yes, he probably did [laughs].

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Tay Sachs and Cystic Fibrosis

Miriam discovered she was a Tay Sachs carrier when she was sixteen years old. Both parents have to carry the gene for there to be a possibility of their child having it. The condition is degenerative and children often only live for 5-8 years. At the time, Miriam wasn’t too concerned and felt that as long as she didn’t marry a carrier there wouldn’t be a problem with her having children in the future.

Katy was pregnant when she discovered she was a Tay Sachs carrier. She was initially very concerned to find out if her husband was also a carrier, but she no longer worried about it when he was found not to be.

Miriam wasnt worried when she discovered she was a Tay Sachs carrier because she knew it wouldn…

Age at interview 47

Gender Female

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Anyway after my brother was tested I also went to be tested and I discovered I was also a carrier. And at this stage it was well before… I don’t… I think it was while I was still at school so it was just a theoretical thing that I knew about.

And did you, were you worried at the time you might be a carrier or was it one of those things that you didn’t really think about?

No, I didn’t really think about. Once I discovered I was a carrier, it was still very theoretical and I was just very… and in fact it’s never… as I say it didn’t turn out to be a problem, because within, the people I met in England, there wasn’t a problem with me saying you know, I’d like you to be tested, because I’m a carrier. And people, I suppose the people I was meeting, mostly people who are educated enough to know what it meant to be a carrier, that to marry a carrier if you weren’t a carrier was not something of great import… and therefore people didn’t say, I don’t want to meet you again if you’re a carrier. I didn’t find that at all. So I found people were willing to be tested.

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Discovering that they were both carriers for the cystic fibrosis gene was very confusing and “pretty horrific” for Aaron and Rebecca. They were worried about what would happen after their child was born. However the professional help they received in the first few weeks after their daughter was born was “incredibly helpful”.

Getting a diagnosis

Some people opted for screening to discover whether they were carriers of genes associated with particular diseases. In some cases this was because the condition...